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Autoimmun Rev. 2012 Nov;12(1):5-9. doi: 10.1016/j.autrev.2012.07.014. Epub 2012 Aug 2.

New genetic interpretation of old diseases.

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UMAI, Laboratoire de Génétique, CHRU Montpellier, Université Montpellier 1, UM1, INSERM U844, France.


The title of this section, "New genetic interpretation of old diseases," perfectly reflects the unique history of our understanding of autoinflammatory diseases (AIDs). Indeed, the main clinical feature of most AIDs is the recurrent fever, a symptom that has been extensively documented for centuries. However, the first clear description of a patient suffering from the AID prototype, familial Mediterranean fever (FMF), has only been reported in 1908, although dating studies have shown that ancestral mutations appeared in biblical times. FMF and 11 other AID genes were identified between 1997 and 2011. The patient's care has dramatically benefited from the elucidation of the molecular defect underlying similar diseases of the innate immune system. However, accumulation of present and future sequence data let us anticipate that interpretation of genetic diagnosis will be increasingly difficult.

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